Canonical Allele Identifier: CA2175488002

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412616C= , CM000677.2:g.48412616C=	GRCh38
NC_000015.9:g.48704813C= , CM000677.1:g.48704813C=	GRCh37
NC_000015.8:g.46492105C=	NCBI36
NG_008805.2:g.238173G= , LRG_778:g.238173G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*987G=	ENSP00000453958.2:n.*987G=
ENST00000674301.2:c.*1692G=	ENSP00000501333.2:n.*1692G=
ENST00000682158.1:n.1560G=
ENST00000682170.1:n.2360G=
ENST00000682767.1:n.1476G=
ENST00000316623.10:c.8179G= MANE Select	ENSP00000325527.5:p.Gly2727=
ENST00000674301.1:c.3345G=	ENSP00000501333.1:n.3345G=
ENST00000316623.9:c.8179G=	ENSP00000325527.5:p.Gly2727=
ENST00000559133.5:c.3548G=
ENST00000561429.1:n.434G=
NM_000138.4:c.8179G= , LRG_778t1:c.8179G=	NP_000129.3:p.Gly2727=
NM_000138.5:c.8179G= MANE Select	NP_000129.3:p.Gly2727=